Gene Summary

Name:
ubiquitin-fold modifier 1
Synonyms:
1810045K17Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased cardiac muscle contractility Ufm1em1(IMPC)Marc HET Early adult 2.83×10-06
increased circulating triglyceride level Ufm1em1(IMPC)Marc HET Early adult 5.94×10-06
dilated heart left ventricle Ufm1em1(IMPC)Marc HET Early adult 2.56×10-05
decreased red blood cell distribution width Ufm1em1(IMPC)Marc HET Early adult 2.21×10-05
increased total body fat amount Ufm1em1(IMPC)Marc HET Early adult 7.35×10-11
decreased bone mineral content Ufm1em1(IMPC)Marc HET Early adult 2.42×10-09
preweaning lethality, complete penetrance Ufm1em1(IMPC)Marc HOM   Early adult 0.00
decreased bone mineral density Ufm1em1(IMPC)Marc HET Early adult 2.56×10-09
decreased circulating total protein level Ufm1em1(IMPC)Marc HET   Early adult 5.04×10-05
decreased lean body mass Ufm1em1(IMPC)Marc HET Early adult 2.75×10-09

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Ufm1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Ufm1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Leukodystrophy, Hypomyelinating, 14
OMIM:617899

The table below shows human diseases predicted to be associated to Ufm1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Coronary Artery Disease, Autosomal Dominant 2
Hypertension, Hyperlipidemia, Osteoporosis, Gout, Hypercholesterolemia, Myocardial infarction, Hy... OMIM:610947
Atherosclerosis Susceptibility
Myocardial infarction, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Refractory Celiac Disease
Macrocytic anemia, Hypoproteinemia, Normocytic anemia, Iron deficiency anemia, Weight loss, Osteo... ORPHA:398063
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... ORPHA:766
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype... OMIM:616516
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Trypsinogen Deficiency
Failure to thrive, Hypoproteinemia OMIM:614044
Enterokinase Deficiency
Failure to thrive, Hypoproteinemia OMIM:226200
Glycogen Storage Disease Vi
Hypercholesterolemia, Failure to thrive in infancy, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Proteasome-Associated Autoinflammatory Syndrome 5
Failure to thrive in infancy, Hypertriglyceridemia, Splenomegaly OMIM:619175
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Shock, Hypoproteinemia, Neutropenia, Hypoalbuminemia OMIM:600351
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Small for gestational age, Low pulse pressure, Lipodystrophy, Hy... ORPHA:86816
Morbid Obesity And Spermatogenic Failure
Hypertension, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, H... OMIM:615703
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Leukopenia, Increased LDL... OMIM:267700
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Hypertriglyceridemia, Granulocytopenia, Hemophagocytosis OMIM:608898
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Hypertension, Hypertriglyceridemia, Obesity, Childhood-onset truncal ob... ORPHA:71529
Lipodystrophy, Familial Partial, Type 1
Increased facial adipose tissue, Hypertension, Loss of subcutaneous adipose tissue in limbs, Lipo... OMIM:608600
Omenn Syndrome
B lymphocytopenia, Hypoproteinemia, Failure to thrive, Hypoplasia of the thymus, Anemia, Splenome... OMIM:603554
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypoproteinemia, Ventricular septal defect, Prolonged QT interval, Perica... ORPHA:26793
Fish-Eye Disease
Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration, Decreased HDL ... OMIM:136120
Lipodystrophy, Familial Partial, Type 4
Hypertension, Lipoatrophy, Hypertriglyceridemia OMIM:613877
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia, Tachycardia OMIM:221400
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Lipodystrophy, Familial Partial, Type 5
Abnormal circulating lipid concentration, Lipodystrophy, Hypertriglyceridemia OMIM:615238
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Normochromic anemia, Hemolytic anemia, Hypertriglyceridemia OMIM:245900
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Bone-marrow foa... OMIM:607616
Plin1-Related Familial Partial Lipodystrophy
Hypertension, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, ... ORPHA:280356
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Leukopenia, Failure to thrive, Anemia, Increased total bilirubin, ... OMIM:603553
Lipodystrophy, Congenital Generalized, Type 3
Lipodystrophy, Reduced subcutaneous adipose tissue, Generalized lipodystrophy, Splenomegaly, Hype... OMIM:612526
Nephrotic Syndrome, Type 1
Hypoproteinemia, Small for gestational age, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Lipodystrophy, Familial Partial, Type 7
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... OMIM:606721
Hemophagocytic Lymphohistiocytosis, Familial, 4
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... OMIM:603552
Ménétrier Disease
Hypoproteinemia, Hypochromic microcytic anemia, Weight loss, Gastrointestinal hemorrhage, Hypoalb... ORPHA:2494
Dengue Fever
Cerebral hemorrhage, Hypoproteinemia, Leukopenia, Epistaxis, Gastrointestinal hemorrhage, Thrombo... ORPHA:99828
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia, Elevated hepcidin level OMIM:206200
Lipase Deficiency, Combined
Lipodystrophy, Hypertriglyceridemia OMIM:246650
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia, Lymphopenia OMIM:207731
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Lymphangiectasia, Intestinal
Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Neutral Lipid Storage Disease With Myopathy
Elevated circulating creatine kinase concentration, Cardiomyopathy, Hypertriglyceridemia OMIM:610717
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Lymphopenia ORPHA:1116
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Thrombocytosis, Hypoproteinemia, Budd-Chiari syndrome, Iron deficiency anemia, Pulmonary embolism... OMIM:226300
Citrullinemia Type Ii
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Decreased body mass ind... ORPHA:247585
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Pericardial effusion, Weight loss, Anemia, Hypocalcemia, Reduced proportion of C... ORPHA:90362
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomegaly, Hypertrig... OMIM:613101
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Panniculitis, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceri... OMIM:618398
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production OMIM:603529
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Erythroid hyperplasia, Elevated hepatic iron concentration, Anemia, Splenomegaly, In... OMIM:616860
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusi... OMIM:619313
Temple Syndrome
Small for gestational age, Truncal obesity, Joint hypermobility, Hypercholesterolemia, Hypertrigl... OMIM:616222
Anemia, Congenital Dyserythropoietic, Type Ia
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Macrocytic dy... OMIM:224120
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Anemi... OMIM:615631
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Failure to thrive, Hyperbilirubinemia, Hypercholesterole... OMIM:605814
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Sudden cardiac death, Ventricular escape rhythm, Increased LDL cholestero... ORPHA:98855
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia, Splenomegaly OMIM:614480
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Congenital Generalized Lipodystrophy
Hypertrophic cardiomyopathy, Bone cyst, Failure to thrive, Lipodystrophy, Adipose tissue loss, Hy... ORPHA:528
Gaisböck Syndrome
Hyperproteinemia, Hypertension, Elevated diastolic blood pressure, Obesity, Increased red blood c... ORPHA:90041
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Lipodystrophy, Familial Partial, Type 3
Hypertension, Decreased HDL cholesterol concentration, Loss of subcutaneous adipose tissue in lim... OMIM:604367
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia, Flexion contracture OMIM:608093
Johanson-Blizzard Syndrome
Dextrocardia, Hypoproteinemia, Failure to thrive, Anemia, Abnormal cardiac septum morphology ORPHA:2315
Hyperlipoproteinemia, Type Iv
Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:144600
Hypertriglyceridemia 1
Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:145750
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Sudden cardiac death, Ventricular escape rhy... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Sudden cardiac death, Ventricular escape rhy... ORPHA:261
Glycerol Kinase Deficiency
Osteoporosis, Hypertriglyceridemia, Small for gestational age, Pathologic fracture OMIM:307030
Chédiak-Higashi Syndrome
Abnormal natural killer cell morphology, Hyponatremia, Hypoproteinemia, Neutropenia, Thrombocytop... ORPHA:167
Lymphoproliferative Syndrome, X-Linked, 2
Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, Pancytopenia, A... OMIM:300635
Abdominal Obesity-Metabolic Syndrome 4
Hypertension, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, M... OMIM:618620
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Increased mean corpuscular volume, Anemia, Hyperbilirubinemia, Melena, Anis... ORPHA:98870
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Anemia, Hyperbilirubinemia, Splenomegaly, Acute myeloi... ORPHA:158057
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Pancreatic insufficiency, combined exocrine
Hypoproteinemia, Congestive heart failure OMIM:260450
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Elevated circulating creatine kinas... ORPHA:435660
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Thrombocytosis, Macrocytic anemia, Leukopenia, Erythroid hypoplasia, Acute myeloid leukemia, Anis... ORPHA:86841
Focal Segmental Glomerulosclerosis 1
Hypertension, Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertrophic cardiomyopathy, Sudden cardiac death, Ventricular escape rhythm, Increased LDL chole... ORPHA:98863
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Angina pectoris, Increased HDL cholesterol concentration OMIM:614025
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Telangiectasia, Lipodystrophy, Osteoporosis, Hypertriglyceridemia, Flexion contracture OMIM:615381
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase level ... OMIM:300908
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Ventricular septal defect, Splenomegaly, Hypocalcemia, Inguinal hernia OMIM:235255
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Reduced intrathoracic adipose tissue, Increased adi... ORPHA:2457
Macrophage Activation Syndrome
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Juvenile rheumat... ORPHA:158061
Rajab Interstitial Lung Disease With Brain Calcifications 2
Joint hypermobility, Hepatosplenomegaly, Microcytic anemia, Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reduced haptoglobin level, Hypochromia, Stomatocytosis, Hype... ORPHA:71275
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Atrial fibrillation, Elevated circulating creatine kinase concentration, F... OMIM:613327
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hypertrophic cardiomyopathy, Increased facial adipose tissue, Decreased HDL cholesterol concentra... ORPHA:280365
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... OMIM:144250
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Angina pectoris, Increased HDL cholesterol concentration ORPHA:140905
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertension, Reduced subcutaneous adipose tissue, Generalized lipodystrophy, Reduced intraabdomi... ORPHA:363400
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia ORPHA:436182
Protoporphyria, Erythropoietic, 1
Hemolytic anemia, Hypertriglyceridemia OMIM:177000
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Ventricular septal defect, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Ingui... ORPHA:1655
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Abnormality of iron homeostasis, Failure to thrive in infancy, Hypochromi... ORPHA:231226
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Panniculitis, Anemia, Arthritis, Lipodystrophy, Splenomegaly, Lymphopenia, Fle... OMIM:617591
Familial Partial Lipodystrophy, Dunnigan Type
Hypertrophic cardiomyopathy, Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Splenom... ORPHA:2348
Lipodystrophy, Familial Partial, Type 2
Increased facial adipose tissue, Hypertension, Decreased HDL cholesterol concentration, Loss of s... OMIM:151660
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Lipodystrophy, Hypertriglyceridemia... ORPHA:435651
Akt2-Related Familial Partial Lipodystrophy
Lipodystrophy, Hypertriglyceridemia, Hyperlipidemia, Increased intraabdominal fat ORPHA:79085
Orotic Aciduria
Ventricular septal defect, Hypochromia, Failure to thrive, Anisocytosis, Atrial septal defect, Po... OMIM:258900
Hemophagocytic Syndrome Associated With An Infection
Hyperproteinemia, Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration... ORPHA:158048
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly ORPHA:75234
Lcat Deficiency
Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein AI concentration, H... ORPHA:650
Acquired Generalized Lipodystrophy
Hypertension, Unicameral bone cyst, Abnormal circulating lipid concentration, Panniculitis, Cardi... ORPHA:79086
Familial Dilated Cardiomyopathy
Abnormal circulating creatine kinase concentration, Right ventricular dilatation, Atrial fibrilla... ORPHA:217607
Pparg-Related Familial Partial Lipodystrophy
Hypertrophic cardiomyopathy, Hypertension, Loss of subcutaneous adipose tissue in limbs, Hyperuri... ORPHA:79083
Multiple Myeloma
Hyperproteinemia, Hypercalcemia, Elevated circulating creatinine concentration, Weight loss, Anem... ORPHA:29073
Lysosomal Acid Lipase Deficiency
Decreased HDL cholesterol concentration, Leukopenia, Increased LDL cholesterol concentration, Fai... OMIM:278000
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Hyperthreoninemia, Hepatosplenomegaly, Gastrointestinal hemorr... ORPHA:247598
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Failure to thrive, Osteoporosis, Anemia, Card... ORPHA:264580
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Failure to thrive, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Hyperlipidemia, Failure to thrive, Osteoporosis, Osteopenia ORPHA:369
Smith-Magenis Syndrome
Hypercholesterolemia, Abnormal heart morphology, Hypertriglyceridemia, Increased body weight OMIM:182290
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Decreased serum iron, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, El... OMIM:616959
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Abnormal heart morphology, Failure to thrive,... ORPHA:370
H Syndrome
Facial telangiectasia, Lipodystrophy, Hernia, Hepatosplenomegaly, Microcytic anemia, Abnormal car... ORPHA:168569
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased circulating apolipoprotein C-... OMIM:207750
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Osteoporosis, Anemia, Splenomegaly, Hyperchol... ORPHA:79240
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Reduced bone mineral density, Gastrointestinal hemorrhage, Portal h... ORPHA:1414
Lysinuric Protein Intolerance
Hyperglycinemia, Pathologic fracture, Hyperammonemia, Increased circulating ferritin concentratio... ORPHA:470
Xp21 Deletion Syndrome
Elevated circulating creatine kinase concentration, Osteoporosis, Reduced bone mineral density, H... ORPHA:261476
Alstrom Syndrome
Dilated cardiomyopathy, Hypertension, Decreased HDL cholesterol concentration, Truncal obesity, H... OMIM:203800
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia, Pulmonary e... ORPHA:567548
Congenital Erythropoietic Porphyria
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Scarring, Leukopenia, Erythroid hyper... ORPHA:79277
Glycogen Storage Disease Iii
Elevated circulating creatine kinase concentration, Ventricular hypertrophy, Cardiomyopathy, Hype... OMIM:232400
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Failure to thrive, Cardiomegaly, Anisocytosis, Poikilocytosis, Chronic hemolytic anemia, Reticulo... OMIM:618278
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Gout, Hyperchol... ORPHA:412
Familial Hemophagocytic Lymphohistiocytosis
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... ORPHA:540
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertension, Intracranial hemorrhage, Mitral valve calcification, Mitral regurgitation, Ventricu... ORPHA:363618
Fanconi-Bickel Syndrome
Rickets, Failure to thrive, Hypophosphatemia, Osteopenia, Hypertriglyceridemia ORPHA:2088
Lipodystrophy, Congenital Generalized, Type 2
Hypertrophic cardiomyopathy, Reduced intrathoracic adipose tissue, Lipodystrophy, Reduced subcuta... OMIM:269700
Juvenile Polyposis Syndrome
Hypoproteinemia, Failure to thrive, Epistaxis, Anemia, Spontaneous, recurrent epistaxis, Extrahep... ORPHA:2929
Lipodystrophy, Congenital Generalized, Type 1
Reduced intrathoracic adipose tissue, Lipodystrophy, Reduced subcutaneous adipose tissue, Cardiom... OMIM:608594
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Nephrotic Syndrome, Type 14
Hypoalbuminemia, Lymphopenia, Hypertriglyceridemia OMIM:617575
Obesity Due To Congenital Leptin Deficiency
Obesity, Orthostatic hypotension due to autonomic dysfunction, Decreased proportion of CD4-positi... ORPHA:66628
Citrullinemia, Type Ii, Adult-Onset
Hyperargininemia, Elevated plasma citrulline, Hypertriglyceridemia, Hyperammonemia OMIM:603471
Obesity Due To Leptin Receptor Gene Deficiency
Obesity, Orthostatic hypotension due to autonomic dysfunction, Decreased proportion of CD4-positi... ORPHA:179494
Pierson Syndrome
Hypoproteinemia OMIM:609049
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Chronic neutropenia, Hypertension, Hyperlipidemia, Abnormal myeloid leukocyte morphology, Failure... ORPHA:79259
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Hypertension, Third degree atrioventricular block, Elevated circulating C... OMIM:619573
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased HDL cholesterol concentration, Hyperlipidemia, Increased LDL cholesterol concentration,... ORPHA:77293
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypoalbuminemia, Pericardial effusion, Hypomagnesemia, Hypertriglyceridemia, Hypoca... OMIM:618183
Neutral Lipid Storage Disease With Ichthyosis
Cardiomyopathy, Abnormal circulating creatine kinase concentration, Hypertriglyceridemia, Abnorma... ORPHA:98907
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Flexion contracture of toe, Failure to thrive, Panniculi... OMIM:256040
Tangier Disease
Coronary artery stenosis, Hypocholesterolemia, Anemia, Left ventricular hypertrophy, Hepatospleno... ORPHA:31150
Smith-Magenis Syndrome
Failure to thrive in infancy, Hypercholesterolemia, Hypertriglyceridemia, Joint stiffness, Obesity ORPHA:819
Mandibuloacral Dysplasia Progeroid Syndrome
Mitral valve calcification, Mitral regurgitation, Generalized lipodystrophy, Tricuspid regurgitat... OMIM:619127
Classical-Like Ehlers-Danlos Syndrome Type 2
Mitral valve prolapse, Pericardial effusion, Inguinal hernia, Osteopenia, Joint hypermobility, Hy... ORPHA:536532
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Hyponatremia, Cachexia, Failure to thrive, Vacuolated lymphocytes, Weight loss, Pul... ORPHA:275761
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Obesity, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Primary Lipodystrophy
Hypertension, Hyperlipidemia, Lipodystrophy, Cardiomyopathy, Splenomegaly, Lipoatrophy, Congestiv... ORPHA:90970
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalcemia, Abnormal heart morphology, Restrictive cardiomyopathy, Craniosynostosis, Osteopeni... ORPHA:369837
Familial Chylomicronemia Syndrome
Hyperlipidemia, Failure to thrive, Hepatosplenomegaly, Hypertriglyceridemia, Pulmonary embolism, ... ORPHA:444490
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue in limbs, Hyperlipidemi... OMIM:608612
Hyperlipoproteinemia, Type I
Hyperlipidemia, Lactescent serum, Splenomegaly, Hypercholesterolemia, Hepatosplenomegaly, Increas... OMIM:238600
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased facial adipose tissue, Calcinosis, Loss of subcutaneous adipose tissue in limbs, Hyperl... OMIM:248370
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Splenomegaly OMIM:613027
Body Mass Index Quantitative Trait Locus 19
Obesity, Hyperlipidemia OMIM:617885
X-Linked Lymphoproliferative Disease
Increased B cell count, B lymphocytopenia, Myocarditis, Increased T cell count, Splenomegaly, Abs... ORPHA:2442
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia, Splenomegaly OMIM:214900
Aapoaiv Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Abnormal cardiac ventricular function, Hyperten... ORPHA:439232
Seckel Syndrome 10
Hypertension, Ventricular hypertrophy, Congestive heart failure, Elevated hemoglobin A1c, Hypertr... OMIM:617253
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia OMIM:604484
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Ventricular septal defect, Failure to thrive in infancy, Failure to thrive, Anemia, Splenomegaly,... OMIM:619418
Atypical Werner Syndrome
Hypertension, Mitral valve prolapse, Chondrocalcinosis, Failure to thrive, Aortic valve calcifica... ORPHA:79474
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hypertension, Schistocytosis, Hyperlipidemia, Microangiopathic hemolytic anemia, Elevated circula... OMIM:235400
Microtriplication 11Q24.1
Obesity, Hyperlipidemia, Limitation of joint mobility ORPHA:289522
Primary Pigmented Nodular Adrenocortical Disease
Cardiac myxoma, Hypertension, Hyperlipidemia, Increased susceptibility to fractures, Osteoporosis... ORPHA:189439
Methanol Poisoning
Cerebral hemorrhage, Hypertension, Intracranial hemorrhage, Hyperlipidemia, Permanent atrial fibr... ORPHA:31825
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hypertension, Hyperlipidemia, Increased circulating cortisol level, Dorsocervical fat pad, Increa... ORPHA:189427
Leptospirosis
Hyperproteinemia, Pericarditis, Subconjunctival hemorrhage, Pulmonary hemorrhage, First degree at... ORPHA:509
19P13.12 Microdeletion Syndrome
Ventricular septal defect, Hyperlipidemia, Mitral regurgitation, Aortic regurgitation, Craniosyno... ORPHA:254346
Fabry Disease
Hyperlipidemia, Reduced bone mineral density, Achalasia, Transient ischemic attack, Hypertrophic ... ORPHA:324
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Griscelli Syndrome Type 2
Neutropenia, Hyperlipidemia, Splenomegaly, Pancytopenia, Hemophagocytosis ORPHA:79477
Familial Multiple Lipomatosis
Increased adipose tissue, Lipodystrophy, Abnormal tricuspid valve morphology, Hyperlipidemia ORPHA:199276
Combined Deficiency Of Factor V And Factor Viii
Intracranial hemorrhage, Hyperlipidemia, Joint hemorrhage, Epistaxis, Hyperuricemia, Gastrointest... ORPHA:35909
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Hyperlipidemia, Osteolytic defects of the distal phalanges of the hand, Acroosteolysi... ORPHA:90154
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Hypertension, Neutropenia, Hyperlipidemia, Small for g... ORPHA:1830
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Triglyceride Deposit Cardiomyovasculopathy
Hyperlipidemia, Coronary artery stenosis, Elevated circulating creatine kinase concentration, Vac... ORPHA:565612
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Glycogen Storage Disease Ib
Hypertension, Neutropenia, Hyperlipidemia, Osteoporosis, Gout, Hyperuricemia, Xanthelasma OMIM:232220
Neutral Lipid Storage Myopathy
Congestive heart failure, Cardiomyopathy, Abnormal circulating creatine kinase concentration, Hyp... ORPHA:98908
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Decreased plasma free carnitine, Hyperlipidemia, Elevated circulating creatine kinase concentrati... ORPHA:228308
Wiedemann-Rautenstrauch Syndrome
Synovitis, Failure to thrive, Slender build, Congenital malformation of the left heart, Reduced s... ORPHA:3455
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Failure to thrive, Hyperlipidemia ORPHA:2089
Glycogen Storage Disease Ia
Hypertension, Hyperlipidemia, Osteoporosis, Gout, Hyperuricemia, Xanthelasma OMIM:232200
Wiedemann-Rautenstrauch Syndrome
Failure to thrive, Absence of subcutaneous fat, Reduced subcutaneous adipose tissue, Lipoatrophy,... OMIM:264090
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal ... ORPHA:90153
Alagille Syndrome 1
Ventricular septal defect, Failure to thrive, Hypercholesterolemia, Atrial septal defect, Tetralo... OMIM:118450
Aromatase Deficiency
Hyperlipidemia, Osteoporosis, Delayed epiphyseal ossification, Eunuchoid habitus, Osteopenia, Obe... ORPHA:91
Carnitine Palmitoyltransferase Ii Deficiency
Decreased plasma free carnitine, Hyperlipidemia, Elevated circulating creatine kinase concentrati... ORPHA:157
Parenteral Nutrition-Associated Cholestasis
Small for gestational age, Hyperlipidemia, Abnormal circulating fatty-acid concentration, Splenom... ORPHA:567983
Glycogen Storage Disease Ic
Hypertension, Spider hemangioma, Hyperlipidemia, Pulmonary arterial hypertension, Gout, Hyperuric... OMIM:232240
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypertension, Pulmonary embolism, Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Homozygous Familial Hypercholesterolemia
Hypertension, Myocardial steatosis, Hyperlipidemia, Mitral regurgitation, Increased LDL cholester... ORPHA:391665
Alström Syndrome
Dilated cardiomyopathy, Hypertension, Hyperlipidemia, Dorsocervical fat pad, Pulmonary arterial h... ORPHA:64
Turner Syndrome
Bicuspid aortic valve, Failure to thrive in infancy, Hypertension, Prolonged QT interval, Hyperli... ORPHA:881
Mosaic Monosomy X
Bicuspid aortic valve, Failure to thrive in infancy, Hypertension, Prolonged QT interval, Hyperli... ORPHA:99228
Monosomy X
Bicuspid aortic valve, Failure to thrive in infancy, Hypertension, Prolonged QT interval, Hyperli... ORPHA:99226
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, Failure to thrive in infancy, Hypertension, Prolonged QT interval, Hyperli... ORPHA:99413
Woodhouse-Sakati Syndrome
Abnormal T-wave, Hyperlipidemia, Osteopenia ORPHA:3464
Woodhouse-Sakati Syndrome
Abnormal T-wave, Hyperlipidemia OMIM:241080
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Obesity, Hyperlipidemia ORPHA:293987
Leukodystrophy, Hypomyelinating, 14
OMIM:617899

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ufm1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ufm1.

No publications found that use IMPC mice or data for Ufm1.

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MGI Allele Allele Type Produced
Ufm1em1(IMPC)Marc Deletion Mice
Ufm1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ufm1tm46149(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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